Trait: peripheral nervous system disease

Experimental Factor Ontology (EFO) Information
Identifier EFO_0009387
Description A disease involving the peripheral nervous system.
Trait category
Neurological disorder
Synonyms 19 synonyms
  • PNS (peripheral nervous system) diseases
  • PNS disease
  • PNS diseases
  • disease of peripheral nervous system
  • disease or disorder of peripheral nervous system
  • disorder of peripheral nervous system
  • disorder of the peripheral nervous system
  • nerve disease, peripheral
  • nerve diseases, peripheral
  • neuropathy, peripheral
  • peripheral Neuropathies
  • peripheral nerve disease
  • peripheral nerve diseases
  • peripheral nerve disorder
  • peripheral nervous system disease
  • peripheral nervous system disease or disorder
  • peripheral nervous system disorder
  • peripheral nervous system disorders
  • peripheral neuropathy
Mapped terms 10 mapped terms
  • DOID:574
  • ICD10:G64
  • ICD9:350-359.99
  • ICD9:356.9
  • MEDGEN:892389
  • MESH:D010523
  • MONDO:0003620
  • NCIT:C27580
  • SCTID:42658009
  • UMLS:C4025831
Child trait(s) mononeuropathy

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Note: This table shows all PGS for "peripheral nervous system disease" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS001832
(portability-PLR_351)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Other peripheral nerve disorders peripheral nervous system disease 8,393
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001832/ScoringFiles/PGS001832.txt.gz
PGS002039
(portability-ldpred2_351)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Other peripheral nerve disorders peripheral nervous system disease 799,326
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002039/ScoringFiles/PGS002039.txt.gz
PGS004453
(disease.G56.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 G56 (Mononeuropathies of upper limb) mononeuropathy 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004453/ScoringFiles/PGS004453.txt.gz
PGS004523
(meta.G56.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 G56 (Mononeuropathies of upper limb) mononeuropathy 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004523/ScoringFiles/PGS004523.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM) 		Evaluated Score PGS Sample Set ID
(PSS) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM009548 PGS001832
(portability-PLR_351)
 PSS009302|
European Ancestry|
19,840 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other peripheral nerve disorders — — Partial Correlation (partial-r): 0.0393 [0.0253, 0.0531] sex, age, birth date, deprivation index, 16 PCs —
PPM009549 PGS001832
(portability-PLR_351)
 PSS009076|
European Ancestry|
4,112 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other peripheral nerve disorders — — Partial Correlation (partial-r): 0.0324 [0.0018, 0.063] sex, age, birth date, deprivation index, 16 PCs —
PPM009550 PGS001832
(portability-PLR_351)
 PSS008630|
European Ancestry|
6,611 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other peripheral nerve disorders — — Partial Correlation (partial-r): 0.0341 [0.0099, 0.0582] sex, age, birth date, deprivation index, 16 PCs —
PPM009552 PGS001832
(portability-PLR_351)
 PSS008184|
South Asian Ancestry|
6,277 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other peripheral nerve disorders — — Partial Correlation (partial-r): 0.0367 [0.0119, 0.0614] sex, age, birth date, deprivation index, 16 PCs —
PPM009553 PGS001832
(portability-PLR_351)
 PSS007968|
East Asian Ancestry|
1,801 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other peripheral nerve disorders — — Partial Correlation (partial-r): 0.0055 [-0.041, 0.0519] sex, age, birth date, deprivation index, 16 PCs —
PPM009554 PGS001832
(portability-PLR_351)
 PSS007750|
African Ancestry|
2,471 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other peripheral nerve disorders — — Partial Correlation (partial-r): -0.0227 [-0.0623, 0.0169] sex, age, birth date, deprivation index, 16 PCs —
PPM009555 PGS001832
(portability-PLR_351)
 PSS008854|
African Ancestry|
3,898 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other peripheral nerve disorders — — Partial Correlation (partial-r): -0.0063 [-0.0378, 0.0252] sex, age, birth date, deprivation index, 16 PCs —
PPM009551 PGS001832
(portability-PLR_351)
 PSS008404|
Greater Middle Eastern Ancestry|
1,191 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other peripheral nerve disorders — — Partial Correlation (partial-r): -0.039 [-0.0961, 0.0183] sex, age, birth date, deprivation index, 16 PCs —
PPM011178 PGS002039
(portability-ldpred2_351)
 PSS009302|
European Ancestry|
19,840 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other peripheral nerve disorders — — Partial Correlation (partial-r): 0.0728 [0.059, 0.0867] sex, age, birth date, deprivation index, 16 PCs —
PPM011179 PGS002039
(portability-ldpred2_351)
 PSS009076|
European Ancestry|
4,112 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other peripheral nerve disorders — — Partial Correlation (partial-r): 0.0556 [0.025, 0.0861] sex, age, birth date, deprivation index, 16 PCs —
PPM011180 PGS002039
(portability-ldpred2_351)
 PSS008630|
European Ancestry|
6,611 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other peripheral nerve disorders — — Partial Correlation (partial-r): 0.0652 [0.0412, 0.0892] sex, age, birth date, deprivation index, 16 PCs —
PPM011182 PGS002039
(portability-ldpred2_351)
 PSS008184|
South Asian Ancestry|
6,277 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other peripheral nerve disorders — — Partial Correlation (partial-r): 0.0433 [0.0186, 0.068] sex, age, birth date, deprivation index, 16 PCs —
PPM011183 PGS002039
(portability-ldpred2_351)
 PSS007968|
East Asian Ancestry|
1,801 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other peripheral nerve disorders — — Partial Correlation (partial-r): 0.0229 [-0.0235, 0.0693] sex, age, birth date, deprivation index, 16 PCs —
PPM011184 PGS002039
(portability-ldpred2_351)
 PSS007750|
African Ancestry|
2,471 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other peripheral nerve disorders — — Partial Correlation (partial-r): 0.0037 [-0.0359, 0.0432] sex, age, birth date, deprivation index, 16 PCs —
PPM011185 PGS002039
(portability-ldpred2_351)
 PSS008854|
African Ancestry|
3,898 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other peripheral nerve disorders — — Partial Correlation (partial-r): 0.005 [-0.0265, 0.0365] sex, age, birth date, deprivation index, 16 PCs —
PPM011181 PGS002039
(portability-ldpred2_351)
 PSS008404|
Greater Middle Eastern Ancestry|
1,191 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Other peripheral nerve disorders — — Partial Correlation (partial-r): 0.0081 [-0.0492, 0.0654] sex, age, birth date, deprivation index, 16 PCs —
PPM020568 PGS004453
(disease.G56.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: G56 (Mononeuropathies of upper limb) OR: 1.2757 — — — —
PPM020638 PGS004523
(meta.G56.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: G56 (Mononeuropathies of upper limb) OR: 1.41928 — — — —

Evaluated Samples

PGS Sample Set ID
(PSS) 		Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS007750 — — 2,471 individuals — African American or Afro-Caribbean Carribean UKB —
PSS009076 — — 4,112 individuals — European Poland (NE Europe) UKB —
PSS008404 — — 1,191 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS008630 — — 6,611 individuals — European Italy (South Europe) UKB —
PSS009302 — — 19,840 individuals — European UK (+ Ireland) UKB —
PSS008184 — — 6,277 individuals — South Asian India (South Asia) UKB —
PSS008854 — — 3,898 individuals — African unspecified Nigeria (West Africa) UKB —
PSS011364 — — 56,192 individuals — European — UKB —
PSS007968 — — 1,801 individuals — East Asian China (East Asia) UKB —